254103003: Osteodysplastic primordial dwarfism, type 2 (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378262010 Osteodysplastic primordial dwarfism, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644948019 Osteodysplastic primordial dwarfism, type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3849411000052118 osteodysplastisk primordial kortvuxenhet, typ 2 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteodysplastic primordial dwarfism, type 2	Is a	Osteodysplastic primordial dwarfism	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 2	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 2	Occurrence	Congenital	false	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 2	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 2	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 2	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 2	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 2	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 2	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 2	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism, type 2	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism, type 2	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism, type 2	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 2	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
378262010	Osteodysplastic primordial dwarfism, type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644948019	Osteodysplastic primordial dwarfism, type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3849411000052118	osteodysplastisk primordial kortvuxenhet, typ 2	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)